Fam Code CDKN2A Mutation Base change p16 AA change
A 23ins24 g.32-33ins9-32 p.M1-S8dup
A7 M53I g.159G>C / g.202G>C p.M53I
AP IVS2-105A/G g.458-105A>G p.156-157del
AY D153spl g.384_457del p.R128fs137X
B L16R g.47T>G p.L16R
C M53I g.159G>C / g.202G>C p.M53I
D R58X g.172C>T / g.215C>T p.R58X
D1 R87W g.259C>T/g.302C>T p.R87W
E N71S g.212A>G / g.255A>G p.N71S
F R87P g.260G>C / g.303G>C p.R87P
N 167del31 g.167_197del / g.210_240del p.G67fsX145
O 225del19 g.225_243del / g.268_286del p.A76fs139X
P 240del14 g.240_253del / g.283_296del p.1-80p16:100-133p14
Q IVS2+1 g.457+1G>T p.Ex1a-Ex3delEx2 / p.R128fs137X
AH Intron 1 IVS1b+2T>C NONE*
AN Exon 1b del Exon1b del NONE*
G, CC, H and I G101W g.301G>T / g.344G>T p.G101W
J, K and L V126D g.377T>A p.V126D
Table 1: Germline CDKN2A mutations in melanoma-prone families. CMM unaffected and affected individuals with germline CDKN2A mutations from mutation-positive melanoma families were collated into a single group (shaded gray) with potential to influence ROS protection and cell cycle function. Mutations were grouped based on location outside the cell-cycle dependent amino acid sequence 84-103 and previous evidence suggesting a dual impact on ROS protection and cell cycle functions in vitro [23,28]. Families with individuals with CDKN2A mutations which only affected p14ARF primary structure, located within the amino acid sequence 84-103 (G101W) or were previously suggested to alter only cell cycle function and not ROS protection (V126D) were not included in this group and/or analyzed separately due to insufficient numbers. p16AA changes designated NONE*= Mutation that alters primary structure of p14ARF only. The study did not include any unaffected individuals from the mutation-positive family Q.